Scheie syndrome is a rare genetic disorder that is part of a group of conditions known as mucopolysaccharidoses (MPS). It is caused by a deficiency of the enzyme alpha-L-iduronidase, which is responsible for breaking down certain complex sugars in the body. People with Scheie syndrome typically have milder symptoms than those with other types of MPS, including mild to moderate intellectual disability, skeletal abnormalities, and vision and hearing problems.

The most common symptoms of Scheie syndrome include:

-Corneal clouding
-Highly nearsighted vision
-Cataracts
-Glaucoma
-Retinal degeneration
-Retinal detachment
-Strabismus
-Drooping eyelids
-Facial paralysis
-Hearing loss
-Delayed motor development
-Intellectual disability
-Cardiac defects
-Skeletal abnormalities
-Growth retardation
-Feeding difficulties
-Respiratory problems
-Gastrointestinal problems
-Kidney problems
-Skin abnormalities

Scheie syndrome is caused by a mutation in the gene that codes for the enzyme alpha-L-iduronidase. This enzyme is responsible for breaking down certain types of complex sugars in the body. When the enzyme is not functioning properly, these sugars accumulate in the body, leading to the symptoms of Scheie syndrome.

The treatments for Scheie syndrome vary depending on the individual and the severity of the condition. Generally, treatments focus on managing the symptoms and preventing complications. These may include:

• Regular eye exams to monitor vision and detect any changes

• Surgery to correct any vision problems

• Wearing glasses or contact lenses to improve vision

• Physical therapy to help maintain muscle strength and flexibility

• Speech therapy to help with communication

• Occupational therapy to help with daily activities

• Medications to help manage pain and other symptoms

• Dietary changes to help manage nutrition and weight

• Genetic counseling to help families understand the condition and its implications

The exact cause of Scheie syndrome is unknown, but it is believed to be an inherited disorder. Risk factors for Scheie syndrome include having a family history of the disorder, being of Ashkenazi Jewish descent, and having a mutation in the IDUA gene.

Yes, there are medications and treatments available for Scheie syndrome. Treatment typically involves the use of eye drops, glasses, and surgery to correct vision problems. Other treatments may include physical therapy, occupational therapy, and speech therapy to help with any physical or developmental delays. Medications may also be prescribed to help manage any associated medical conditions.